A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14355359



Internal ID22267779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25902107..25902107hg38UCSC Ensembl
chr1:26228598..26228598hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561814
Supporting Variants
SamplesNA19238
Known GenesSTMN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14355359
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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